- What happens during a genetic evaluation and counseling session?
Each evaluation is different depending upon the reason a family is referred. A medical geneticist (a physician) and a genetic counselor are usually involved in the initial visit. Both of these have special training in genetics. The patient’s medical history, prenatal (gestation) history, and family medical history are obtained and evaluated. If other relatives have findings that are possibly related to the patient’s problems, we may request medical records or photographs of those individuals to help with the evaluation. A physical examination is performed, and the pertinent findings are outlined. Laboratory testing of blood or urine samples or other studies such as X-rays may be necessary. Finally, if a diagnosis can be made, the patient and/or family will receive a complete explanation (i.e., genetic counseling) about the condition including what is known about natural history (prognosis), potential causes and their genetic implications, and recommendations for management. If a specific diagnosis is not apparent, then pertinent findings are summarized and the patient and/or family are counseled about the possible causes and given recommendations for further diagnostic evaluation and management.
The visit may also include:
- Determining if others in the family could benefit from testing
- Discussing reproductive options for the patient, his/her parents, or other relatives
- Providing information about other medical issues that can arise in someone with the condition
- Summarizing the current recommendations for treatment and the availability of research projects or clinical trial
- Making referrals to other specialists for medical management and to resources such as support organizations and other families.
- Should I do anything to prepare for the appointment?
Learn as much as you can about your family medical history for at least 3 generations, and please fill out the family history form that is sent with your appointment letter and return it before your appointment.
- What kind of information about the family history is important?
- Information about other relatives with the same or similar features as the individual who is being referred for evaluation
- The causes and ages of death of deceased relatives
- Other health problems that have unusually early ages of onset
- Relatives with birth defects, mental retardation, short stature, or other genetic disorders
- Anyone with unusual features and disorders that seem to be "running in the family"
- Your family’s origins (ethnicity) and whether there are marriages in the family between blood relatives.
- What should I bring to the appointment?
Copies of diagnostic evaluations (preferably send us these before the appointment) and previous genetic testing (for example, a chromosome analysis [karyotype], DNA testing, or metabolic testing).
- Are photographs needed?
A photograph of any relative who may have a genetically determined disorder can be helpful in considering a diagnosis. Since features can change over time, it can also be helpful to have photographs of the individual at different ages.
- What happens after the visit?
Following your visit, a clinic note summarizing the evaluation will be written and sent to the referring physician and to the primary care physician.. If genetic counseling is given, a summary letter is sent to the patient or family with copies to the patient’s physicians.
- How will I learn the results of the genetic testing?
If genetic testing is performed during the visit, you will be notified of the test results in writing.
- If the results are not diagnostic, (no abnormality found) a letter will be sent to you summarizing the test results and plans for follow up.
- If the testing is diagnostic (shows an abnormality), we will make a return appointment with you to discuss, in detail, the testing results and implications. A letter will then be sent summarizing the results and recommendations.
A copy of the summary letter will be sent to the referring physician and other health professionals requested by the family.